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<meta name="keywords" content="C3469522, breast cancer, susceptibility to, finding, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. Although breast cancer is much more common in women, this form of cancer can also develop in men. In both women and men, the most common form of breast cancer begins in cells lining the milk ducts (ductal cancer). In women, cancer can also develop in the glands that produce milk (lobular cancer). Most men have little or no lobular tissue, so lobular cancer in men is very rare. \n\nIn its early stages, breast cancer usually does not cause pain and may exhibit no noticeable symptoms. As the cancer progresses, signs and symptoms can include a lump or thickening in or near the breast; a change in the size or shape of the breast; nipple discharge, tenderness, or retraction (turning inward); and skin irritation, dimpling, redness, or scaliness. However, these changes can occur as part of many different conditions. Having one or more of these symptoms does not mean that a person definitely has breast cancer.\n\nIn some cases, cancerous cells can invade surrounding breast tissue. In these cases, the condition is known as invasive breast cancer. Sometimes, tumors spread to other parts of the body. If breast cancer spreads, cancerous cells most often appear in the bones, liver, lungs, or brain. Tumors that begin at one site and then spread to other areas of the body are called metastatic cancers.\n\nA small percentage of all breast cancers cluster in families. These cancers are described as hereditary and are associated with inherited gene mutations. Hereditary breast cancers tend to develop earlier in life than noninherited (sporadic) cases, and new (primary) tumors are more likely to develop in both breasts." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
|
||
UID=854012
|
||
ConceptID=C3469522
|
||
-->
|
||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Breast cancer, susceptibility to</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>854012</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3469522</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>BREAST CANCER, SUSCEPTIBILITY TO</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/176705" target="_blank">176705</a>; <a href="https://omim.org/entry/600675" target="_blank">600675</a>; <a href="https://omim.org/entry/601593" target="_blank">601593</a>; <a href="https://omim.org/entry/607585" target="_blank">607585</a>; <a href="https://omim.org/entry/609300" target="_blank">609300</a>; <a href="https://omim.org/entry/611731" target="_blank">611731</a></td></tr>
|
||
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||
<div class="portlet mgSection" id="ID_100">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. Although breast cancer is much more common in women, this form of cancer can also develop in men. In both women and men, the most common form of breast cancer begins in cells lining the milk ducts (ductal cancer). In women, cancer can also develop in the glands that produce milk (lobular cancer). Most men have little or no lobular tissue, so lobular cancer in men is very rare. <br /><br />In its early stages, breast cancer usually does not cause pain and may exhibit no noticeable symptoms. As the cancer progresses, signs and symptoms can include a lump or thickening in or near the breast; a change in the size or shape of the breast; nipple discharge, tenderness, or retraction (turning inward); and skin irritation, dimpling, redness, or scaliness. However, these changes can occur as part of many different conditions. Having one or more of these symptoms does not mean that a person definitely has breast cancer.<br /><br />In some cases, cancerous cells can invade surrounding breast tissue. In these cases, the condition is known as invasive breast cancer. Sometimes, tumors spread to other parts of the body. If breast cancer spreads, cancerous cells most often appear in the bones, liver, lungs, or brain. Tumors that begin at one site and then spread to other areas of the body are called metastatic cancers.<br /><br />A small percentage of all breast cancers cluster in families. These cancers are described as hereditary and are associated with inherited gene mutations. Hereditary breast cancers tend to develop earlier in life than noninherited (sporadic) cases, and new (primary) tumors are more likely to develop in both breasts. [from <a title="MedlinePlus Genetics" href="https://medlineplus.gov/genetics/" class="defSource" target="_blank">MedlinePlus Genetics</a>]</div>
|
||
</div>
|
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|
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<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1458155[DISCUI]&test_type=Clinical" ref="ncbi_uid=264172">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C1458155[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=264172">R</a></span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=264172" ref="ncbi_uid=264172">V</a></span></span><span class="TLline"><a href="/medgen/264172" ref="tree=GTR&ncbi_uid=264172&link_uid=264172" title="View MedGen record for 'Breast neoplasm'">Breast neoplasm</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0858252[DISCUI]&test_type=Clinical" ref="ncbi_uid=167809">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=167809" ref="ncbi_uid=167809">V</a></span></span><span class="TLline"><a href="/medgen/167809" ref="tree=GTR&ncbi_uid=167809&link_uid=167809" title="View MedGen record for 'Breast adenocarcinoma'">Breast adenocarcinoma</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0006142[DISCUI]&test_type=Clinical" ref="ncbi_uid=651">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=651" target="_blank" href="/omim/114480">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=651" ref="ncbi_uid=651">V</a></span></span><span class="TLline"><a href="/medgen/651" ref="tree=GTR&ncbi_uid=651&link_uid=651" title="View MedGen record for 'Malignant tumor of breast'">Malignant tumor of breast</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0346153[DISCUI]&test_type=Clinical" ref="ncbi_uid=87542">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=87542" target="_blank" href="/omim/114480">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1247/" ref="ncbi_uid=87542">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=87542" ref="ncbi_uid=87542">V</a></span></span><span class="TLline"><a href="/medgen/87542" ref="tree=GTR&ncbi_uid=87542&link_uid=87542" title="View MedGen record for 'Familial cancer of breast'">Familial cancer of breast</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0004135[DISCUI]&test_type=Clinical" ref="ncbi_uid=439">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=439" target="_blank" href="/omim/208900">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1138%20OR%20NBK26468)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=439">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=439" ref="ncbi_uid=439">V</a></span></span><span class="TLline"><a href="/medgen/439" ref="tree=GTR&ncbi_uid=439&link_uid=439" title="View MedGen record for 'Ataxia-telangiectasia syndrome'">Ataxia-telangiectasia syndrome</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4016951[DISCUI]&test_type=Clinical" ref="ncbi_uid=865388">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C4016951[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=865388">R</a></span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=865388" target="_blank" href="/omim/605882">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=865388" ref="ncbi_uid=865388">V</a></span></span><span class="TLline"><a href="/medgen/865388" ref="tree=GTR&ncbi_uid=865388&link_uid=865388" title="View MedGen record for 'Breast cancer, early-onset'">Breast cancer, early-onset</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1861906[DISCUI]&test_type=Clinical" ref="ncbi_uid=350535">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C1861906[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=350535">R</a></span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=350535" target="_blank" href="/omim/114480">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/350535" ref="tree=GTR&ncbi_uid=350535&link_uid=350535" title="View MedGen record for 'Breast cancer, familial male'">Breast cancer, familial male</a></span></li><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3469522[DISCUI]&test_type=Clinical" ref="ncbi_uid=854012">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C3469522[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=854012">R</a></span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=854012" target="_blank" href="/omim/176705">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=854012" ref="ncbi_uid=854012">V</a></span></span><span class="TLline">Breast cancer, susceptibility to</span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1836860[DISCUI]&test_type=Clinical" ref="ncbi_uid=323015">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=323015" target="_blank" href="/omim/605882">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1401/" ref="ncbi_uid=323015">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=323015" ref="ncbi_uid=323015">V</a></span></span><span class="TLline"><a href="/medgen/323015" ref="tree=GTR&ncbi_uid=323015&link_uid=323015" title="View MedGen record for 'Fanconi anemia complementation group J'">Fanconi anemia complementation group J</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1835817[DISCUI]&test_type=Clinical" ref="ncbi_uid=372133">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=372133" target="_blank" href="/omim/610355">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1401/" ref="ncbi_uid=372133">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=372133" ref="ncbi_uid=372133">V</a></span></span><span class="TLline"><a href="/medgen/372133" ref="tree=GTR&ncbi_uid=372133&link_uid=372133" title="View MedGen record for 'Fanconi anemia complementation group N'">Fanconi anemia complementation group N</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0677776[DISCUI]&test_type=Clinical" ref="ncbi_uid=151793">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1247/" ref="ncbi_uid=151793">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=151793" ref="ncbi_uid=151793">V</a></span></span><span class="TLline"><a href="/medgen/151793" ref="tree=GTR&ncbi_uid=151793&link_uid=151793" title="View MedGen record for 'Hereditary breast ovarian cancer syndrome'">Hereditary breast ovarian cancer syndrome</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0085390[DISCUI]&test_type=Clinical" ref="ncbi_uid=88399">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=88399" target="_blank" href="/omim/151623">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1311/" ref="ncbi_uid=88399">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=88399" ref="ncbi_uid=88399">V</a></span></span><span class="TLline"><a href="/medgen/88399" ref="tree=GTR&ncbi_uid=88399&link_uid=88399" title="View MedGen record for 'Li-Fraumeni syndrome'">Li-Fraumeni syndrome</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0031269[DISCUI]&test_type=Clinical" ref="ncbi_uid=18404">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=18404" target="_blank" href="/omim/175200">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1266/" ref="ncbi_uid=18404">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=18404" ref="ncbi_uid=18404">V</a></span></span><span class="TLline"><a href="/medgen/18404" ref="tree=GTR&ncbi_uid=18404&link_uid=18404" title="View MedGen record for 'Peutz-Jeghers syndrome'">Peutz-Jeghers syndrome</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1959582[DISCUI]&test_type=Clinical" ref="ncbi_uid=368366">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=368366" target="_blank" href="/omim/158350">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1488/" ref="ncbi_uid=368366">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=368366" ref="ncbi_uid=368366">V</a></span></span><span class="TLline"><a href="/medgen/368366" ref="tree=GTR&ncbi_uid=368366&link_uid=368366" title="View MedGen record for 'PTEN hamartoma tumor syndrome'">PTEN hamartoma tumor syndrome</a></span></li></ul></li></ul></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/871338" ref="tree=MeSH" title="MedGen record for Abnormality of the breast">Abnormality of the breast</a></span><ul><li><span class="TLline"><a href="/medgen/1627648" ref="tree=MeSH" title="MedGen record for Abnormal breast morphology">Abnormal breast morphology</a></span><ul><li><span class="TLline"><a href="/medgen/264172" ref="tree=MeSH" title="MedGen record for Breast neoplasm">Breast neoplasm</a></span><ul><li><span class="TLline"><a href="/medgen/146260" ref="tree=MeSH" title="MedGen record for Breast carcinoma">Breast carcinoma</a></span><ul><li><span class="TLline"><a href="/medgen/87542" ref="tree=MeSH" title="MedGen record for Familial cancer of breast">Familial cancer of breast</a></span><ul><li><span class="matched_ds">Breast cancer, susceptibility to</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
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|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33172724">EAU-EANM-ESTRO-ESUR-SIOG Guidelines on Prostate Cancer-2020 Update. Part 1: Screening, Diagnosis, and Local Treatment with Curative Intent.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mottet N,
|
||
van den Bergh RCN,
|
||
Briers E,
|
||
Van den Broeck T,
|
||
Cumberbatch MG,
|
||
De Santis M,
|
||
Fanti S,
|
||
Fossati N,
|
||
Gandaglia G,
|
||
Gillessen S,
|
||
Grivas N,
|
||
Grummet J,
|
||
Henry AM,
|
||
van der Kwast TH,
|
||
Lam TB,
|
||
Lardas M,
|
||
Liew M,
|
||
Mason MD,
|
||
Moris L,
|
||
Oprea-Lager DE,
|
||
van der Poel HG,
|
||
Rouvière O,
|
||
Schoots IG,
|
||
Tilki D,
|
||
Wiegel T,
|
||
Willemse PM,
|
||
Cornford P</span><br />
|
||
<span class="medgenPMjournal">Eur Urol</span>
|
||
2021 Feb;79(2):243-262.
|
||
Epub 2020 Nov 7
|
||
doi: 10.1016/j.eururo.2020.09.042.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33172724" target="_blank">33172724</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25512463">Evolution of genetic testing for inherited susceptibility to breast cancer.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Domchek SM</span><br />
|
||
<span class="medgenPMjournal">J Clin Oncol</span>
|
||
2015 Feb 1;33(4):295-6.
|
||
Epub 2014 Dec 15
|
||
doi: 10.1200/JCO.2014.59.3178.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25512463" target="_blank">25512463</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9164127">Should we test women for inherited susceptibility to breast cancer? what do NC primary care physicians think.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">O'Malley MS,
|
||
Klabunde CN,
|
||
McKinley ED,
|
||
Newman B</span><br />
|
||
<span class="medgenPMjournal">N C Med J</span>
|
||
1997 May-Jun;58(3):176-80.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9164127" target="_blank">9164127</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22breast%20cancer%2C%20susceptibility%20to%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (36)</a></div><h3 class="subhead">Curated<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpCurated"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3><h3 class="nl vspace"><a href="https://www.nice.org.uk/guidance/cg164" target="_blank">UK NICE Clinical Guideline CG164, Familial breast cancer: classification, care and managing breast cancer and related risks in people with a family history of breast cancer, 2023</a></h3>
|
||
</div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35643632">CHEK2 variants: linking functional impact to cancer risk.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Boonen RACM,
|
||
Vreeswijk MPG,
|
||
van Attikum H</span><br />
|
||
<span class="medgenPMjournal">Trends Cancer</span>
|
||
2022 Sep;8(9):759-770.
|
||
Epub 2022 May 25
|
||
doi: 10.1016/j.trecan.2022.04.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35643632" target="_blank">35643632</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35272929">Cancer genetics and breast cancer.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Huber-Keener KJ</span><br />
|
||
<span class="medgenPMjournal">Best Pract Res Clin Obstet Gynaecol</span>
|
||
2022 Jun;82:3-11.
|
||
Epub 2022 Jan 31
|
||
doi: 10.1016/j.bpobgyn.2022.01.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35272929" target="_blank">35272929</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31776799">Diagnosis and Treatment of Breast Cancer in Young Women.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rossi L,
|
||
Mazzara C,
|
||
Pagani O</span><br />
|
||
<span class="medgenPMjournal">Curr Treat Options Oncol</span>
|
||
2019 Nov 27;20(12):86.
|
||
doi: 10.1007/s11864-019-0685-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31776799" target="_blank">31776799</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26580154">Breast cancer.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Woolston C</span><br />
|
||
<span class="medgenPMjournal">Nature</span>
|
||
2015 Nov 19;527(7578):S101.
|
||
doi: 10.1038/527S101a.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26580154" target="_blank">26580154</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23747889">Breast cancer genes: beyond BRCA1 and BRCA2.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Filippini SE,
|
||
Vega A</span><br />
|
||
<span class="medgenPMjournal">Front Biosci (Landmark Ed)</span>
|
||
2013 Jun 1;18(4):1358-72.
|
||
doi: 10.2741/4185.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23747889" target="_blank">23747889</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Breast%20cancer%2C%20susceptibility%20to%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (11603)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33413533">Invasive lobular carcinoma of the breast: the increasing importance of this special subtype.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">McCart Reed AE,
|
||
Kalinowski L,
|
||
Simpson PT,
|
||
Lakhani SR</span><br />
|
||
<span class="medgenPMjournal">Breast Cancer Res</span>
|
||
2021 Jan 7;23(1):6.
|
||
doi: 10.1186/s13058-020-01384-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33413533" target="_blank">33413533</a><a href="/pmc/articles/PMC7792208" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31776799">Diagnosis and Treatment of Breast Cancer in Young Women.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Rossi L,
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<div class="nl"><a target="_blank" href="/pubmed/29096890">Breast Cancer Epidemiology, Prevention, and Screening.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Winters S,
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<div class="portlet_content ln"><span class="medgenPMauthor">Woolston C</span><br />
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<div class="nl"><a target="_blank" href="/pubmed/25186627">Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Tung N,
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Allen B,
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Kaldate R,
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Bhatnagar S,
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Timms K,
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Garber JE,
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Herold C,
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Ellisen L,
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Krejdovsky J,
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DeLeonardis K,
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Sedgwick K,
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<span class="bold">PMID: </span><a href="/pubmed/25186627" target="_blank">25186627</a></div>
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Yu L,
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Xu X,
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Xu W,
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Timofeeva M,
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Zhang X,
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He Y,
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Yang H,
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<div class="nl"><a target="_blank" href="/pubmed/33465101">Coffee consumption and risk of breast cancer: A Mendelian randomization study.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/31280187">Chemoprevention of Breast Cancer With Vitamins and Micronutrients: A Concise Review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Mokbel K,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Breast%20cancer%2C%20susceptibility%20to%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (2792)</a></div><h3 class="subhead">Prognosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/33413533">Invasive lobular carcinoma of the breast: the increasing importance of this special subtype.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">McCart Reed AE,
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<div class="nl"><a target="_blank" href="/pubmed/33198517">Triple-negative breast cancer: promising prognostic biomarkers currently in development.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Sukumar J,
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<div class="nl"><a target="_blank" href="/pubmed/33142233">Breast cancers, mammary stem cells, and cancer stem cells, characteristics, and hypotheses.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Taurin S,
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Alkhalifa H</span><br />
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<div class="nl"><a target="_blank" href="/pubmed/31421262">Metastatic heterogeneity of breast cancer: Molecular mechanism and potential therapeutic targets.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Liang Y,
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<div class="nl"><a target="_blank" href="/pubmed/28724667">Germline Mutations in Cancer Susceptibility Genes in a Large Series of Unselected Breast Cancer Patients.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Sun J,
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Meng H,
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Yao L,
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Lv M,
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Bai J,
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Zhang J,
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Wang L,
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Ouyang T,
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Li J,
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<span class="bold">PMID: </span><a href="/pubmed/28724667" target="_blank">28724667</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Breast%20cancer%2C%20susceptibility%20to%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (4876)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/36646003">Polygenic risk scores and breast cancer risk prediction.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Roberts E,
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<div class="nl"><a target="_blank" href="/pubmed/34207035">Tumor-Associated Macrophages as Multifaceted Regulators of Breast Tumor Growth.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Munir MT,
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Kay MK,
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Kang MH,
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Rahman MM,
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Al-Harrasi A,
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Choudhury M,
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Moustaid-Moussa N,
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Hussain F,
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<span class="medgenPMjournal">Int J Mol Sci</span>
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2021 Jun 18;22(12)
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<span class="bold">PMID: </span><a href="/pubmed/34207035" target="_blank">34207035</a><a href="/pmc/articles/PMC8233875" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/33142233">Breast cancers, mammary stem cells, and cancer stem cells, characteristics, and hypotheses.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Taurin S,
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Alkhalifa H</span><br />
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Epub 2020 Oct 23
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<span class="bold">PMID: </span><a href="/pubmed/33142233" target="_blank">33142233</a><a href="/pmc/articles/PMC7586061" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/25186627">Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Tung N,
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Battelli C,
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Allen B,
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Kaldate R,
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Bhatnagar S,
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Bowles K,
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Timms K,
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Garber JE,
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Herold C,
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Ellisen L,
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Krejdovsky J,
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DeLeonardis K,
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Sedgwick K,
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Soltis K,
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Roa B,
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Wenstrup RJ,
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Hartman AR</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/25186627" target="_blank">25186627</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/24389207">The breast cancer susceptibility genes (BRCA) in breast and ovarian cancers.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Paul A,
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<span class="bold">PMID: </span><a href="/pubmed/24389207" target="_blank">24389207</a><a href="/pmc/articles/PMC4307936" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Breast%20cancer%2C%20susceptibility%20to%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (5978)</a></div></div>
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</div>
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<div class="portlet mgSection" id="ID_104">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln">
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<div class="nl"><a target="_blank" href="/pubmed/38175972">Germline Testing in Patients With Breast Cancer: ASCO-Society of Surgical Oncology Guideline.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Bedrosian I,
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Somerfield MR,
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Achatz MI,
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Boughey JC,
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Curigliano G,
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Friedman S,
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Kohlmann WK,
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Kurian AW,
|
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Laronga C,
|
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Lynce F,
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Norquist BS,
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Plichta JK,
|
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Rodriguez P,
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Shah PD,
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Tischkowitz M,
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Wood M,
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Yadav S,
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Yao K,
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Robson ME</span><br />
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<span class="medgenPMjournal">J Clin Oncol</span>
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2024 Feb 10;42(5):584-604.
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Epub 2024 Jan 4
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<span class="bold">PMID: </span><a href="/pubmed/38175972" target="_blank">38175972</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/34425242">Cancer predisposition and germline CTNNA1 variants.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Lobo S,
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Benusiglio PR,
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Coulet F,
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Boussemart L,
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Golmard L,
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Spier I,
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Hüneburg R,
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Aretz S,
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Colas C,
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Oliveira C</span><br />
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<span class="medgenPMjournal">Eur J Med Genet</span>
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2021 Oct;64(10):104316.
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<span class="bold">PMID: </span><a href="/pubmed/34425242" target="_blank">34425242</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/33172724">EAU-EANM-ESTRO-ESUR-SIOG Guidelines on Prostate Cancer-2020 Update. Part 1: Screening, Diagnosis, and Local Treatment with Curative Intent.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Mottet N,
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van den Bergh RCN,
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Briers E,
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Van den Broeck T,
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Cumberbatch MG,
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De Santis M,
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Fanti S,
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Fossati N,
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Gandaglia G,
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Gillessen S,
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Grivas N,
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Grummet J,
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Henry AM,
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van der Kwast TH,
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Lam TB,
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Lardas M,
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Liew M,
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Mason MD,
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Moris L,
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Oprea-Lager DE,
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van der Poel HG,
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Rouvière O,
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Schoots IG,
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Tilki D,
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Wiegel T,
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Willemse PM,
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Cornford P</span><br />
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<span class="medgenPMjournal">Eur Urol</span>
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2021 Feb;79(2):243-262.
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<span class="bold">PMID: </span><a href="/pubmed/33172724" target="_blank">33172724</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/26501537">Benefits and Harms of Breast Cancer Screening: A Systematic Review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Myers ER,
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Moorman P,
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Gierisch JM,
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Havrilesky LJ,
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Grimm LJ,
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Ghate S,
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Davidson B,
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Mongtomery RC,
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Crowley MJ,
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McCrory DC,
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Kendrick A,
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<span class="medgenPMjournal">JAMA</span>
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2015 Oct 20;314(15):1615-34.
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<span class="bold">PMID: </span><a href="/pubmed/26501537" target="_blank">26501537</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/23425944">Male breast cancer: risk factors, biology, diagnosis, treatment, and survivorship.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Ruddy KJ,
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<span class="medgenPMjournal">Ann Oncol</span>
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2013 Jun;24(6):1434-43.
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|
||
doi: 10.1093/annonc/mdt025.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23425944" target="_blank">23425944</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Breast%20cancer%2C%20susceptibility%20to%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (257)</a></div></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C3469522%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (40)</a></li>
|
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<li><a href="/gtr/tests?term=C3469522%5bDISCUI%5d&filter=method%3A2%5F18" target="_blank">Mutation scanning of select exons (1)</a></li>
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<li><a href="/gtr/tests?term=C3469522%5bDISCUI%5d&test_type=Research" target="_blank">Research (1)</a></li>
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<li><a href="/gtr/tests?term=C3469522%5bDISCUI%5d&filter=method%3A2%5F30" target="_blank">RNA analysis (1)</a></li>
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<li><a href="/gtr/tests?term=C3469522%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (2)</a></li>
|
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<li><a href="/gtr/tests?term=C3469522%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (61)</a></li>
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